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https://www.readbyqxmd.com/read/29334044/gene-environment-interplay-in-the-etiology-of-psychosis
#1
Alyson Zwicker, Eileen M Denovan-Wright, Rudolf Uher
Schizophrenia and other types of psychosis incur suffering, high health care costs and loss of human potential, due to the combination of early onset and poor response to treatment. Our ability to prevent or cure psychosis depends on knowledge of causal mechanisms. Molecular genetic studies show that thousands of common and rare variants contribute to the genetic risk for psychosis. Epidemiological studies have identified many environmental factors associated with increased risk of psychosis. However, no single genetic or environmental factor is sufficient to cause psychosis on its own...
January 15, 2018: Psychological Medicine
https://www.readbyqxmd.com/read/29332587/lysosomal-acid-lipase-deficiency-could-dyslipidemia-drive-the-diagnosis
#2
Ornella Guardamagna
LAL-deficiency (LAL-D) is a rare and systemic condition, secondary to LIPA gene mutations, responsible for lysosomal accumulation of cholesteryl esters and triglycerides, whose manifestations are very heterogeneous in terms of age of onset, severity and type of clinical and radiological manifestations. Dyslipidemia, hepatomegaly and hepatosteatosis with increased levels of transaminases are the most common features. The increased risk of premature atherosclerosis and cardiovascular disorders,, secondary to a generalized alteration of lipid profile and lipoprotein dysfunction associated with LAL-D, has been increasingly pointed out...
January 11, 2018: Current Pediatric Reviews
https://www.readbyqxmd.com/read/29332184/neurologic-complications-of-immune-checkpoint-inhibitors
#3
Avi Fellner, Chen Makranz, Michal Lotem, Felix Bokstein, Alisa Taliansky, Shai Rosenberg, Deborah T Blumenthal, Jacob Mandel, Suzana Fichman, Elena Kogan, Israel Steiner, Tali Siegal, Alexander Lossos, Shlomit Yust-Katz
Immune checkpoint inhibitors (ICPIs) have recently emerged as a novel treatment for cancer. These agents, transforming the field of oncology, are not devoid of toxicity and cause immune-related side effects which can involve any organ including the nervous system. In this study, we present 9 patients (7 men and 2 women) with neurologic complications secondary to ICPI treatment. These included meningoencephalitis, limbic encephalitis, polyradiculitis, cranial polyneuropathy, myasthenic syndrome and myositis...
January 13, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29332121/pattern-onset-ergs-and-veps-produced-by-patterns-arising-from-light-increment-and-decrement
#4
Dennis M Fritsch, Jane C Sowden, Dorothy A Thompson
Purpose: Our aim was to elaborate how on and off signals contribute to pattern ERGs and pattern visual evoked potentials (VEPs) by using pedestal patterns arising from incremental and decremental onset stimulation. Methods: Pattern onset/offset ERGs and VEPs were produced by black and white checks of 60' side length and 88% spatial contrast appearing in a 16° field for 200 ms from white (110 cd/m2), black (7 cd/m2), and gray (48 cd/m2) backgrounds and disappeared for 1000 ms...
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29332075/patient-evaluation-and-selection-for-movement-disorders-surgery-the-changing-spectrum-of-indications
#5
Steffen Paschen, Günther Deuschl
This report summarizes the state-of-the-art and controversies around patient selection for deep brain stimulation (DBS) for various conditions. Parkinson's disease (PD): several class I studies have shown superiority of DBS over best medical treatment for advanced PD with fluctuations and further inclusion criteria. One class I study suggests that PD patients with early motor complications might gain more quality of life if operated within 3 years after the onset of fluctuations. The subthalamic nucleus (STN) is still the standard target...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29332033/effect-of-dual-tasking-on-anticipatory-and-compensatory-postural-adjustments-in-response-to-external-perturbations-in-individuals-with-nonspecific-chronic-low-back-pain-electromyographic-analysis
#6
Ladan Hemmati, Soraya Piroozi, Zahra Rojhani-Shirazi
BACKGROUND: In patients with chronic low back pain (CLBP), postural control is a demanding task in terms of attention. Although the attentional demands of postural control have been investigated in these patients, the attentional demands of postural recovery during dual task performance have not been evaluated in patients with nonspecific CLBP. OBJECTIVE: To investigate the effect of dual tasking on anticipatory and compensatory postural adjustments in response to an external perturbation in patients with nonspecific CLBP...
December 29, 2017: Journal of Back and Musculoskeletal Rehabilitation
https://www.readbyqxmd.com/read/29332009/poststroke-psychosis-a-systematic-review
#7
REVIEW
Helle Stangeland, Vasiliki Orgeta, Vaughan Bell
A preregistered systematic review of poststroke psychosis examining clinical characteristics, prevalence, diagnostic procedures, lesion location, treatments, risk factors and outcome. Neuropsychiatric outcomes following stroke are common and severely impact quality of life. No previous reviews have focused on poststroke psychosis despite clear clinical need. CINAHL, MEDLINE and PsychINFO were searched for studies on poststroke psychosis published between 1975 and 2016. Reviewers independently selected studies for inclusion, extracted data and rated study quality...
January 13, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29331850/attentional-biases-in-patients-suffering-from-unipolar-depression-results-of-a-dot-probe-task-investigation
#8
Wolfgang Trapp, Christoph Kalzendorf, Corinna Baum, Göran Hajak, Stefan Lautenbacher
Cognitive models of depression emphasize the relevance of cognitive biases for development, onset and maintenance of major depressive disorder (MDD). Attentional biases consisting of increased attention to negative, mood congruent stimuli and reduced attention to positive, mood-incongruent stimuli are postulated but have rarely been tested for early attentional processing. Furthermore, the role of concurrent depressive mood as a moderating factor has not been studied to date. Participants comprised 30 patients suffering from MDD and 30 healthy control subjects...
January 4, 2018: Psychiatry Research
https://www.readbyqxmd.com/read/29331702/is-very-low-infant-birth-weight-a-predictor-for-a-five-year-course-of-depression-in-parents-a-latent-growth-curve-model
#9
Claus Barkmann, Nadine Helle, Carola Bindt
BACKGROUND: A very low birth weight (VLBW) is considered as a significant risk factor for early-onset developmental problems in infants, but is also discussed as a potential risk factor for the development of depressive symptoms in affected parents. METHODS: In this study, the 5-year courses of maternal and paternal depression with VLBW and term born infants (n = 250 families) are modeled and predicted by factors existing at the time of birth. RESULTS: The dyadic trajectories of depression could be best described by five classes (I no depression, II minor maternal depression, III increasing dyadic depression, IV significant maternal depression, V highly depressed mothers)...
December 13, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29331690/effect-of-depressive-symptoms-on-the-evolution-of-neuropsychological-functions-over-the-course-of-adolescence
#10
Mohammad H Afzali, Maeve Oleary-Barrett, Jean R Séguin, Patricia Conrod
INTRODUCTION: Comprehensive understanding of the association between depression and neuropsychological functioning over the course of adolescence requires developmentally sensitive assessment through longitudinal data. The aim of current study is to examine the concurrent and subsequent effects of depressive symptoms on the initial level and evolution of four neuropsychological functioning domains (i.e., spatial working memory, delayed recall memory, perceptual reasoning, and inhibitory control)...
December 22, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29331531/profiles-of-%C3%AE-amyloid-peptides-and-key-secretases-in-brain-autopsy-samples-differ-with-sex-and-apoe-%C3%AE%C2%B54-status-impact-for-risk-and-progression-of-alzheimer-disease
#11
Jennifer N K Nyarko, Maa O Quartey, Paul R Pennington, Ryan M Heistad, Doris Dea, Judes Poirier, Glen B Baker, Darrell D Mousseau
The APOE ε 4 allele was originally reported to contribute to risk of Alzheimer disease (AD) in women, yet male and female AD patient-derived data are routinely pooled. Histopathological hallmarks of AD include neurofibrillary tangles centered on hyperphosphorylated Tau and plaques composed of the β -amyloid (A β) peptide that is derived by sequential secretase-mediated cleavage of the Amyloid Protein Precursor (APP). We chose to examine profiles of A β (1-40), A β (1-42), and N-truncated (i.e. p3-related) fragments in the plaque-associated fraction of autopsied cortical and corresponding hippocampal samples from donors with a diagnosis of early-onset (EOAD) and late-onset (LOAD) AD...
January 10, 2018: Neuroscience
https://www.readbyqxmd.com/read/29331272/high-sensitivity-cardiac-troponin-and-new-onset-heart-failure-a-systematic-review-and-meta-analysis-of-67-063-patients-with-4-165-incident-heart-failure-events
#12
Jonathan D W Evans, Stephen J H Dobbin, Stephen J Pettit, Emanuele Di Angelantonio, Peter Willeit
OBJECTIVES: The aim of this study was to systematically collate and appraise the available evidence regarding the association between high-sensitivity cardiac troponin (hs-cTn) and incident heart failure (HF) and the added value of hs-cTn in HF prediction. BACKGROUND: Identification of subjects at high risk for HF and early risk factor modification with medications such as angiotensin-converting enzyme inhibitors may delay the onset of HF. Hs-cTn has been suggested as a prognostic marker for the incidence of first-ever HF in asymptomatic subjects...
January 3, 2018: JACC. Heart Failure
https://www.readbyqxmd.com/read/29331203/have-we-forgotten-about-forgetting-a-critical-review-of-accelerated-long-term-forgetting-in-temporal-lobe-epilepsy
#13
REVIEW
Anneli Cassel, Michael D Kopelman
Forgetting has been researched for over a century. This literature highlighted how forgetting rates can vary dependent on factors in the design and method. Recent interest in forgetting revived with evidence suggesting that seizures experienced almost immediately after matched learning could accelerate forgetting. This was followed by a growth in forgetting studies in patients with temporal lobe epilepsy (TLE), including a subset of those with transient epileptic amnesia (TEA). These patients have been described as expressing concerns about memory, yet often perform within 'normal' ranges on standard neuropsychological memory assessments...
December 26, 2017: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/29331171/the-genotypic-and-phenotypic-spectrum-of-mto1-deficiency
#14
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, Riza K Ozgul, Peter Freisinger, Ian Garber, Tobias B Haack, Rita Horvath, Ivo Barić, Ralf A Husain, Leo A J Kluijtmans, Urania Kotzaeridou, Andrew A Morris, Colin J Ross, Saikat Santra, Jan Smeitink, Mark Tarnopolsky, Saskia B Wortmann, Johannes A Mayr, Michaela Brunner-Krainz, Holger Prokisch, Wyeth W Wasserman, Ron A Wevers, Udo F Engelke, Richard J Rodenburg, Teck Wah Ting, Robert McFarland, Robert W Taylor, Ramona Salvarinova, Clara D M van Karnebeek
BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10)...
January 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29331049/prenatal-maternal-psychosocial-stress-and-offspring-s-asthma-and-allergic-disease-a-systematic-review-and-meta-analysis
#15
Catherine Flanigan, Aziz Sheikh, Audrey DunnGalvin, Bronwyn K Brew, Catarina Almqvist, Bright I Nwaru
BACKGROUND: Prenatal maternal stress may influence offspring's atopic risk through sustained cortisol secretion resulting from activation of the hypothalamic-pituitary-axis (HPA), leading to Th2-biased cell differentiation in the fetus. We undertook a systematic review and meta-analysis investigating the relationship between prenatal maternal psychosocial stress and risk of asthma and allergy in the offspring. METHODS: We searched 11 electronic databases from 1960 to 2016, search the grey literature, and contacted experts in the field...
January 13, 2018: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29330892/ophthalmic-artery-doppler-prediction-of-preeclampsia-a-systematic-review-and-meta-analysis
#16
REVIEW
Erkan Kalafat, Ariana Laoreti, Asma Khalil, Fabricio Da Silva Costa, Basky Thilaganathan
OBJECTIVE: To determine the accuracy of ophthalmic artery Doppler in pregnancy for the prediction of preeclampsia. METHODS: MEDLINE (1947-2017), EMBASE (1974-2017), CINAHL (inception-2017) and the Cochrane Library (inception-2017) were searched for relevant citations without language restrictions. Two reviewers independently selected studies that evaluated the accuracy of ophthalmic artery Doppler to predict the development of preeclampsia and performed data extraction to construct 2 × 2 tables...
January 12, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29330336/risk-factors-for-survival-in-patients-with-von-hippel-lindau-disease
#17
Jiang-Yi Wang, Shuang-He Peng, Teng Li, Xiang-Hui Ning, Sheng-Jie Liu, Bao-An Hong, Jia-Yuan Liu, Peng-Jie Wu, Bo-Wen Zhou, Jing-Cheng Zhou, Nie-Nie Qi, Xiang Peng, Jiu-Feng Zhang, Kai-Fang Ma, Lin Cai, Kan Gong
BACKGROUND: Historically, von Hippel-Lindau (VHL) disease is characterised by a poor survival. Although genotype-phenotype correlation has been described in many studies, the risk factors for VHL survival remain unclear. This study aims to evaluate the median survival of Chinese patients with VHL disease and explore whether VHL survival is influenced by genetic and clinical factors. METHODS: In this retrospective study, we recruited 340 patients from 127 VHL families...
January 12, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29330335/fabry-disease-prevalence-of-affected-males-and-heterozygotes-with-pathogenic-gla-mutations-identified-by-screening-renal-cardiac-and-stroke-clinics-1995-2017
#18
Dana Doheny, Ram Srinivasan, Silvere Pagant, Brenden Chen, Makiko Yasuda, Robert J Desnick
BACKGROUND: Fabry Disease (FD), an X linked lysosomal storage disease due to pathogenic α-galactosidase A (GLA) mutations, results in two major subtypes, the early-onset Type 1 'Classic' and the Type 2 'Later-Onset' phenotypes. To identify previously unrecognised patients, investigators screened cardiac, renal and stroke clinics by enzyme assays. However, some screening studies did not perform confirmatory GLA mutation analyses, and many included recently recognised 'benign/likely-benign' variants, thereby inflating prevalence estimates...
January 12, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29330016/clinical-impact-of-delayed-catheter-removal-for-patients-with-central-venous-catheter-related-gram-negative-bacteremia
#19
Yu-Mi Lee, Chisook Moon, Young Jin Kim, Hee-Joo Lee, Mi Suk Lee, Ki-Ho Park
BACKGROUND: Gram-negative bacteria are increasingly the cause of catheter-related bloodstream infections (CRBSI), which show a rapidly rising prevalence of multidrug-resistant strains. We evaluated the impact of delayed central venous catheter (CVC) removal on clinical outcomes in patients with gram-negative CRBSI. METHODS: Between January 2007 and December 2016, patients with gram-negative bacteremia and CVC placement, from two tertiary care hospitals, were retrospectively included...
January 9, 2018: Journal of Hospital Infection
https://www.readbyqxmd.com/read/29329590/frequent-overexpression-of-amap1-an-arf6-effector-in-cell-invasion-is-characteristic-of-the-mmtv-pymt-rather-than-the-mmtv-neu-human-breast-cancer-model
#20
Yutaro Otsuka, Tsukasa Oikawa, Hinako Yoshino, Shigeru Hashimoto, Haruka Handa, Hiroki Yamamoto, Ari Hashimoto, Hisataka Sabe
BACKGROUND: The small GTPase Arf6 and its downstream effector AMAP1 (also called ASAP1/DDEF1) constitute a signaling pathway promoting cell invasion, in which AMAP1 interacts with several different proteins, including PRKD2, EPB41L5, paxillin, and cortactin. Components of this pathway are often overexpressed in human breast cancer cells, to be correlated with poor prognosis of the patients, whereas overexpression of the Arf6 pathway did not correlate with the four main molecular classes of human breast tumors...
January 5, 2018: Cell Communication and Signaling: CCS
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